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pyruvate decarboxylase deficiency
Summary
- Synonym
-
- deficiency of pyruvic dehydrogenase
- pyruvate dehydrogenase complex deficiency disease
- pyruvate dehydrogenase deficiency
- Definition
- A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
- Super Class
- carbohydrate metabolic disorder
External Links
- Disease Ontology
- DOID:3649
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001302 | Pachygyria |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001999 | Abnormal facial shape |
| HP:0002079 | Hypoplasia of the corpus callosum |
